Mutation Direct

Effortless mutation search and display tool

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Gene: LRAT & Disease: CRB, 72 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2506311	LRAT	c.40_41delinsTT	p.Glu14Leu (p.E14L)	NM_004744.5 M	Indel	LP	1 +	4
2506311	LRAT	c.40_41delinsTT	p.Glu14Leu (p.E14L)	NM_001301645.2	Indel	LP	1 +	4
802096	LRAT	c.163C>G	p.Arg55Gly (p.R55G)	NM_004744.5 M	SNV	P	2 +	3
802096	LRAT	c.163C>G	p.Arg55Gly (p.R55G)	NM_001301645.2	SNV	P	2 +	3
802097	LRAT	c.298G>A	p.Gly100Ser (p.G100S)	NM_004744.5 M	SNV	P	2 +	2
802098	LRAT	c.346T>C	p.Phe116Leu (p.F116L)	NM_004744.5 M	SNV	LP	3 +	2
802097	LRAT	c.298G>A	p.Gly100Ser (p.G100S)	NM_001301645.2	SNV	P	2 +	2
802098	LRAT	c.346T>C	p.Phe116Leu (p.F116L)	NM_001301645.2	SNV	LP	3 +	2
347845	LRAT	c.-115C>G	--	NM_004744.5 M	SNV	VUS	4 +	0
347847	LRAT	c.-2+7A>C	--	NM_004744.5 M	SNV	VUS	4 +	0
347850	LRAT	c.258G>A	p.Gly86= (p.G86=)	NM_004744.5 M	SNV	VUS	4 +	0
347848	LRAT	c.205C>T	p.Arg69Cys (p.R69C)	NM_004744.5 M	SNV	VUS	4 +	0
347851	LRAT	c.403G>T	p.Ala135Ser (p.A135S)	NM_004744.5 M	SNV	VUS	4 +	0
347852	LRAT	c.*98C>T	--	NM_004744.5 M	SNV	LB	4 +	0
347854	LRAT	c.298_301del	--	NM_004744.5 M	Del	VUS	2 +	0
347857	LRAT	c.*549T>C	--	NM_004744.5 M	SNV	VUS	4 +	0
347855	LRAT	c.*313del	--	NM_004744.5 M	Del	VUS	2 +	0
347859	LRAT	c.*640T>C	--	NM_004744.5 M	SNV	VUS	4 +	0
347866	LRAT	c.*1585T>G	--	NM_004744.5 M	SNV	VUS	4 +	0
347865	LRAT	c.*1338T>G	--	NM_004744.5 M	SNV	LB	4 +	0

72 Results, 20 per Page